About Congenital Diaphragmatic Hernia (CDH)
Congenital diaphragmatic hernia (CDH) happens because the diaphragm doesn’t form correctly while a baby is developing in the womb. This leaves a gap, allowing organs from the belly to move up into the chest. This pressure can stop the lungs from fully developing and can also cause high blood pressure in the lungs.
Non-modifiable risk factors are risk factors that can’t be changed, these may include:
- Genetic issues: Certain gene changes or errors in chromosomes are linked to CDH. These can be passed down or happen by chance.
Modifiable risk factors are risk factors that can be changed or influenced. Modifiable risk factors for CDH include:
- Smoking during pregnancy: Smoking while pregnant may raise the risk of CDH, though more research is needed to be sure.
- Some medications: Certain medicines taken during pregnancy might increase the risk of CDH, so it’s important to talk with a doctor about any medicines you’re taking.
These factors do not mean a baby will definitely have CDH, and many cases happen without any known cause. If you’re concerned about CDH risks, talking to your doctor can help.
The most common early signs of CDH in newborns include:
- Breathing problems: Babies with CDH often struggle to breathe because their lungs haven’t fully developed, and their lung structure is different.
- Bluish skin or lips (cyanosis): A blue tint to the skin, lips, or nails can show that the blood isn’t getting enough oxygen.
- Unusual lung sounds: Doctors may hear abnormal lung sounds, like wheezing or weaker breath sounds, during an exam.
As CDH gets worse or becomes more serious, other symptoms can appear, including:
- Digestive issues: These may include trouble feeding, vomiting, or a swollen belly.
- Slow weight gain: Babies with CDH might have a hard time putting on weight and growing normally.
- Heart issues: Sometimes, CDH is linked with heart problems.
- Developmental delays: Some children with CDH may be slower to reach growth or movement milestones.
Symptoms can vary depending on the size and seriousness of the hernia. Getting an early diagnosis and treatment is essential for better outcomes. If you think your child might have CDH or notice these symptoms, it’s important to talk to a healthcare provider for a proper diagnosis and care.
To diagnose CDH, the following examinations, tests, and procedures are commonly performed:
- Physical exam: The doctor will look for visible signs of CDH, such as unusual chest or belly shapes or swelling, which can indicate that organs have shifted into the chest.
- Lab tests: Blood tests may be used to check oxygen levels and detect any signs of stress on the body due to underdeveloped lungs.
- Imaging tests: X-rays or MRI scans provide a clear view of the diaphragm and the organs' positions. These help the doctor see how much of the belly’s organs have moved into the chest, showing the hernia’s severity.
To determine the stage or severity of CDH, additional examinations, tests, and procedures may be done:
- Ultrasound before birth: During pregnancy, an ultrasound can measure the baby's lung size compared to the head size (known as the lung-to-head ratio or LHR). This helps estimate lung development.
- Liver position check: The location of the liver (whether it's still in the belly or has moved into the chest) can provide clues about the baby’s condition after birth; a liver in the chest often suggests a more serious case of CDH.
- Further imaging tests: Additional imaging, like detailed MRIs or CT scans, may be used to closely examine the hernia and assess the affected areas, depending on symptoms and specific needs.
It is important to consult with a healthcare provider for personalized recommendations and guidance. They can provide specific information about which examinations, tests, and procedures are most appropriate for an individual's situation.
The goals of treatment for CDH are:
- Using gentle breathing support: Babies with CDH often need a breathing machine right away, but it’s important to keep the pressure low to avoid damaging their delicate lungs. Doctors adjust the machine’s settings to suit each baby’s specific needs, based on how well their lungs have developed.
- Keeping oxygen levels safe: In severe CDH cases, one lung may be underdeveloped, making it hard for the baby to get enough oxygen. Doctors use special breathing techniques to help improve oxygen levels.
- Lowering high blood pressure in the lungs: High blood pressure in the lungs (pulmonary hypertension) is common in babies with CDH. This can make it difficult for blood to flow through the lungs and put extra strain on the heart. Medications, like nitric oxide that’s breathed in, can help lower this pressure and improve blood flow.
- Repairing the diaphragm: Surgery is usually needed to close the hole in the diaphragm. This is typically done within the first two weeks after birth to help prevent more problems and allow the lungs to grow.
Treatment plans and medicines will vary depending on each baby’s needs. For advice on medication dosing and possible side effects, consult with a healthcare provider or refer to the medication’s information sheet.